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About 48 results

ALLMedicine™ Aec Syndrome Center

Research & Reviews  19 results

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformatio...
https://doi.org/10.1002/jgm.3122
The Journal of Gene Medicine; Jin JY, Zeng L et. al.

Aug 20th, 2019 - Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syn...

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Ch...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565570
Molecular Genetics & Genomic Medicine; Zheng J, Liu H et. al.

May 3rd, 2019 - Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate (EEC) syndrome and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome belong to p63 syndromes, a group of rare disorders exhibiting a wide variety of clinical manifestations. TP63 ...

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bu...
https://doi.org/10.1111/1346-8138.14837
The Journal of Dermatology; Zhang Z, Cheng R et. al.

Feb 28th, 2019 - A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblephar...

Protein aggregation of the p63 transcription factor underlies severe skin fragility in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798343
Proceedings of the National Academy of Sciences of the Un... Russo C, Osterburg C et. al.

Jan 18th, 2018 - The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the C-terminal domain of the p63 gene can cause ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, a life...

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like ...
https://doi.org/10.1002/ajmg.a.38274
American Journal of Medical Genetics. Part A; Khandelwal KD, Ockeloen CW et. al.

May 18th, 2017 - The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are cau...

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